Canonical Allele Identifier: CA10069951

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 543025
• ClinVar RCV Id: RCV000653657 ; RCV001535802 ; RCV004533425
• dbSNP Id: rs1556425727
• ExAC: 21:47410321 GGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA / G
• gnomAD v2: 21-47410321-GGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA-G
• gnomAD v3: 21-45990407-GGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA-G
• gnomAD v4: 21-45990407-GGTGGACGGCGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGGAATGGGGCGAGATGGGGAGGGACGGA-G
• MyVariant Identifiers: chr21:g.47410342_47410424del (hg19) ; chr21:g.47410322_47410404del (hg19) ; chr21:g.45990428_45990510del (hg38) ; chr21:g.45990408_45990490del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990428_45990510del , CM000683.2:g.45990428_45990510del	GRCh38
NC_000021.8:g.47410342_47410424del , CM000683.1:g.47410342_47410424del	GRCh37
NC_000021.7:g.46234770_46234852del	NCBI36
NG_008674.1:g.13680_13762del , LRG_475:g.13680_13762del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1002+6_1002+88del
ENST00000361866.7:c.1002+6_1002+88del
ENST00000612273.1:c.1002+6_1002+88del
NM_001848.2:c.1002+6_1002+88del , LRG_475t1:c.1002+6_1002+88del
NM_001848.3:c.1002+6_1002+88del